Living with Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
A rare bone condition that mainly affects the hips and thigh bones, with hip and knee pain and stiff hips.
Understanding Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
This condition causes serious changes to the upper part of the thigh bones (femurs) starting in childhood. The neck of the thigh bone is short and broad. People may have an unusual way of walking, mild short height, hip and knee pain, and stiff hips with limited movement.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but the summary describes these features:
- Hip and knee pain
- Walking differences (abnormal gait)
- Mild short stature
- Joint stiffness
- Limited hip movement
- Hip bone angle change (coxa vara)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD doesn't describe a cause for this condition yet. It is listed as autosomal dominant, which means one changed copy of a gene can be enough to cause it.
Also known as: multiple epiphyseal dysplasia with severe proximal femoral dysplasia
Patient organizations
- Little People of AmericaMultiple epiphyseal dysplasia, with severe proximal femoral dysplasia · United States
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Perspectives from people navigating life with Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia.
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